Search Results - "Chwalenia, Katarzyna"
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Non-uniform dystrophin re-expression after CRISPR-mediated exon excision in the dystrophin/utrophin double-knockout mouse model of DMD
Published in Molecular therapy. Nucleic acids (13-12-2022)“…Duchenne muscular dystrophy (DMD) is the most prevalent inherited myopathy affecting children, caused by genetic loss of the gene encoding the dystrophin…”
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miR-146a deficiency does not aggravate muscular dystrophy in mdx mice
Published in Skeletal muscle (14-08-2019)“…Duchenne muscular dystrophy (DMD) is a genetic disease evoked by a mutation in the dystrophin gene. It is associated with progressive muscle degeneration and…”
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Connections between Transcription Downstream of Genes and cis-SAGe Chimeric RNA
Published in Genes (22-11-2017)“…cis-Splicing between adjacent genes (cis-SAGe) is being recognized as one way to produce chimeric fusion RNAs. However, its detail mechanism is not clear…”
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Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
Published in Molecular therapy. Nucleic acids (05-03-2021)“…Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. All patients have at least one copy…”
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Chimeric RNAs in cancer and normal physiology
Published in Wiley interdisciplinary reviews. RNA (01-11-2017)“…Traditionally, chimeric RNAs were considered to be exclusive to cancer cells. When occasionally observed in normal samples, they were usually considered to be…”
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A cell-based splicing reporter system to identify regulators of cis-splicing between adjacent genes
Published in Nucleic acids research (28-02-2019)“…Abstract Chimeric RNAs generated by cis-splicing between adjacent genes (cis-SAGe) are increasingly recognized as a widespread phenomenon. These chimeric…”
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A switch of N-glycosylation of proteome and secretome during differentiation of intestinal epithelial cells
Published in Biochimica et biophysica acta. Molecular cell research (01-12-2019)“…The maintenance of homeostasis of the intestinal epithelium depends on the complex process of epithelial cells differentiation, which repeatedly continues…”
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Control of backbone chemistry and chirality boost oligonucleotide splice switching activity
Published in Nucleic acids research (10-06-2022)“…Abstract Although recent regulatory approval of splice-switching oligonucleotides (SSOs) for the treatment of neuromuscular disease such as Duchenne muscular…”
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Exon skipping induces uniform dystrophin rescue with dose-dependent restoration of serum miRNA biomarkers and muscle biophysical properties
Published in Molecular therapy. Nucleic acids (13-09-2022)“…Therapies that restore dystrophin expression are presumed to correct Duchenne muscular dystrophy (DMD), with antisense-mediated exon skipping being the leading…”
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Dystrophin involvement in peripheral circadian SRF signalling
Published in Life science alliance (01-10-2021)“…Absence of dystrophin, an essential sarcolemmal protein required for muscle contraction, leads to the devastating muscle-wasting disease Duchenne muscular…”
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